Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease

Katherine J. Schweitzer, Theresa Brüssel, Petra Leitner, Rejko Krüger, Peter Bauer, Dirk Woitalla, Jürgen Tomiuk, Thomas Gasser, Daniela Berg*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

65 Citations (Scopus)


Hyperechogenicity of the substantia nigra (SN) has been found to be a typical sign in idiopathic Parkinson's disease (PD), prevalent in more than 90% of affected individuals. To see whether SN hyperechogenicity is also characteristic for monogenetically caused PD, we investigated PD patients with alpha-synuclein, LRRK2, parkin, PINK1 and DJ-1 mutations by transcranial sonography (TCS). In all these patients the area of SN echogenicity was significantly larger than in healthy controls, but smaller, than in idiopathic PD. As SN hyperechogenicity could be related to an increased iron content of the SN, these findings suggest that iron may play a less significant role in the pathogenesis of monogenetically caused compared to idiopathic PD.

Original languageEnglish
Pages (from-to)613-616
Number of pages4
JournalJournal of Neurology
Issue number5
Publication statusPublished - May 2007
Externally publishedYes


  • Monogenetic PD
  • Substantia nigra
  • Transcranial sonography


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